1. Genuis SJ, Bouchard TP. {{Celiac Disease Presenting as Autism}}. {J Child Neurol};2009 (Jun 29)
Gluten-restricted diets have become increasingly popular among parents seeking treatment for children diagnosed with autism. Some of the reported response to celiac diets in children with autism may be related to amelioration of nutritional deficiency resulting from undiagnosed gluten sensitivity and consequent malabsorption. A case is presented of a 5-year-old boy diagnosed with severe autism at a specialty clinic for autistic spectrum disorders. After initial investigation suggested underlying celiac disease and varied nutrient deficiencies, a gluten-free diet was instituted along with dietary and supplemental measures to secure nutritional sufficiency. The patient’s gastrointestinal symptoms rapidly resolved, and signs and symptoms suggestive of autism progressively abated. This case is an example of a common malabsorption syndrome associated with central nervous system dysfunction and suggests that in some contexts, nutritional deficiency may be a determinant of developmental delay. It is recommended that all children with neurodevelopmental problems be assessed for nutritional deficiency and malabsorption syndromes.
2. Philippe C, Amsallem D, Francannet C, Lambert L, Saunier A, Verneau F, Jonveaux P. {{Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females}}. {J Med Genet};2009 (Jun 29)
BACKGROUND: The FOXG1 gene has been recently implicated in the congenital form of Rett syndrome (RTT). It encodes the Forkhead box protein G1, a winged-helix transcriptional repressor with expression restricted to testis and brain where it is critical for forebrain development. So far, only two point mutations in FOXG1 have been reported in females affected by the congenital form of RTT. AIM: To assess the implication of FOXG1 in the molecular aetiology of classical RTT syndrome and related disorders. METHODS: We screened the entire multi-exon coding sequence of FOXG1 for point mutations and large rearrangements in a cohort of 35 MECP2/CDKL5 mutation-negative female individuals including 31 classical and 4 congenital forms of RTT. RESULTS: We identified two different de novo heterozygous FOXG1 truncating mutations. The individual with the p.Trp308X mutation presented with a severe RTT-like neurodevelopment disorder, whereas the p.Tyr400X allele was associated with a classical clinical RTT presentation. CONCLUSIONS: These new cases give additional support to the genetic heterogeneity in RTT, and help to delineate the clinical spectrum in the FOXG1-related phenotypes. FOXG1 screening should be considered in the molecular diagnosis of RTT.
